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NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val) AND Familial adenomatous polyposis 2

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 5, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000409877.9

Allele description [Variation Report for NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)]

NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)
HGVS:
  • NC_000001.11:g.45334486G>A
  • NG_008189.1:g.10985C>T
  • NM_001048171.2:c.20C>T
  • NM_001048172.2:c.20C>T
  • NM_001048173.2:c.20C>T
  • NM_001048174.2:c.20C>TMANE SELECT
  • NM_001128425.2:c.62C>T
  • NM_001293190.2:c.62C>T
  • NM_001293191.2:c.20C>T
  • NM_001293192.2:c.-193C>T
  • NM_001293195.2:c.20C>T
  • NM_001293196.2:c.-193C>T
  • NM_001350650.2:c.-252C>T
  • NM_001350651.2:c.-188C>T
  • NM_012222.3:c.62C>T
  • NP_001041636.1:p.Ala21Val
  • NP_001041636.2:p.Ala7Val
  • NP_001041637.1:p.Ala7Val
  • NP_001041638.1:p.Ala7Val
  • NP_001041639.1:p.Ala7Val
  • NP_001121897.1:p.Ala21Val
  • NP_001121897.1:p.Ala21Val
  • NP_001280119.1:p.Ala21Val
  • NP_001280120.1:p.Ala7Val
  • NP_001280124.1:p.Ala7Val
  • NP_036354.1:p.Ala21Val
  • LRG_220t1:c.62C>T
  • LRG_220:g.10985C>T
  • LRG_220p1:p.Ala21Val
  • NC_000001.10:g.45800158G>A
  • NM_001048171.1:c.62C>T
  • NM_001128425.1:c.62C>T
  • NR_146882.2:n.248C>T
  • NR_146883.2:n.171C>T
Protein change:
A21V
Links:
dbSNP: rs1057517460
NCBI 1000 Genomes Browser:
rs1057517460
Molecular consequence:
  • NM_001293192.2:c.-193C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.2:c.-193C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-252C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-188C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.248C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.171C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial adenomatous polyposis 2
Synonyms:
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487378Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
Uncertain significance
(Sep 8, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV000824270Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(May 5, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

Olschwang S, Blanché H, de Moncuit C, Thomas G.

Genet Test. 2007 Fall;11(3):315-20.

PubMed [citation]
PMID:
17949294

Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.

Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.

Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.

PubMed [citation]
PMID:
31780696
PMCID:
PMC6882826
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000487378.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000824270.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 371682). This missense change has been observed in individual(s) with adenomatous polyposis and/or colorectal cancer (PMID: 17949294, 31780696). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 21 of the MUTYH protein (p.Ala21Val).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024